LACK OF REPLICATION OF ASSOCIATION BETWEEN SCN1A SNP AND FEBRILE SEIZURES

被引:21
作者
Petrovski, S. [1 ]
Scheffer, I. E. [2 ,3 ]
Sisodiya, S. M. [4 ]
O'Brien, T. J. [1 ]
Berkovic, S. F. [2 ]
机构
[1] Univ Melbourne, Royal Melbourne Hosp, Dept Med, Melbourne, Vic 3050, Australia
[2] Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Melbourne, Vic, Australia
[3] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia
[4] UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England
基金
英国惠康基金; 英国医学研究理事会;
关键词
LOCI;
D O I
10.1212/WNL.0b013e3181c3fd6f
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:1928 / 1930
页数:6
相关论文
共 7 条
[1]   Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study [J].
Cavalleri, Gianpiero L. ;
Weale, Michael E. ;
Shianna, Kevin V. ;
Singh, Rinki ;
Lynch, John M. ;
Grinton, Bronwyn ;
Szoeke, Cassandra ;
Murphy, Kevin ;
Kinirons, Peter ;
O'Rourke, Deirdre ;
Ge, Dongliang ;
Depondt, Chantal ;
Claeys, Kristl G. ;
Pandolfo, Massimo ;
Gumbs, Curtis ;
Walley, Nicole ;
McNamara, James ;
Mulley, John C. ;
Linney, Kristen N. ;
Sheffield, Leslie J. ;
Radtke, Rodney A. ;
Tate, Sarah K. ;
Chissoe, Stephanie L. ;
Gibson, Rachel A. ;
Hosford, David ;
Stanton, Alice ;
Graves, Tracey D. ;
Hanna, Michael G. ;
Eriksson, Kai ;
Kantanen, Anne-Mari ;
Kalviainen, Reetta ;
O'Brien, Terence J. ;
Sander, Josemir W. ;
Duncan, John S. ;
Scheffer, Ingrid E. ;
Berkovic, Samuel F. ;
Wood, Nicholas W. ;
Doherty, Colin P. ;
Delanty, Norman ;
Sisodiya, Sanjay M. ;
Goldstein, David B. .
LANCET NEUROLOGY, 2007, 6 (11) :970-980
[2]   Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A [J].
Heinzen, Erin L. ;
Yoon, Woohyun ;
Tate, Sarah K. ;
Sen, Arjune ;
Wood, Nicholas W. ;
Sisodiya, Sanjay M. ;
Goldstein, David B. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (05) :876-883
[3]   Navigating the channels and beyond: unravelling the genetics of the epilepsies [J].
Helbig, Ingo ;
Scheffer, Ingrid E. ;
Mulley, John C. ;
Berkovic, Samuel F. .
LANCET NEUROLOGY, 2008, 7 (03) :231-245
[4]   Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures [J].
Mantegazza, M ;
Gambardella, A ;
Rusconi, R ;
Schiavon, E ;
Annesi, F ;
Cassulini, RR ;
Labate, A ;
Carrideo, S ;
Chifari, R ;
Canevini, MP ;
Canger, R ;
Franceschetti, S ;
Annesi, G ;
Wanke, E ;
Quattrone, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (50) :18177-18182
[5]   Association of genetic loci - Replication or not, that is the question [J].
Ott, J .
NEUROLOGY, 2004, 63 (06) :955-958
[6]   Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? [J].
Scheffer, Ingrid E. ;
Zhang, Yue-Hua ;
Jansen, Floor E. ;
Dibbens, Leanne .
BRAIN & DEVELOPMENT, 2009, 31 (05) :394-400
[7]   A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures [J].
Schlachter, K. ;
Gruber-Sedlmayr, U. ;
Stogmann, E. ;
Lausecker, M. ;
Hotzy, C. ;
Balzar, J. ;
Schuh, E. ;
Baumgartner, C. ;
Mueller, J. C. ;
Illig, T. ;
Wichmann, H. E. ;
Lichtner, P. ;
Meitinger, T. ;
Strom, T. M. ;
Zimprich, A. ;
Zimprich, F. .
NEUROLOGY, 2009, 72 (11) :974-978